ArticleMetabolism: clinical and experimental2016
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Article in Metabolism: clinical and experimental, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 33 citations in OpenAlex.
- Associations of lipoprotein(a) concentrations with cardiovascular disease in men and women with primary hypercholesterolemia.Atherosclerosis plus · 2026Article
- Relationship between lipoprotein(a) and PCSK9 in angiogram-proven premature coronary artery disease in an Asian cohort.Scientific reports · 2026Article
- Lipoprotein(a) Concentration and Cardiovascular Disease in a Group of Patients With Familial Hypercholesterolemia-A Lipid Clinic Experience.Clinical cardiology · 2025Article
- Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase.Diagnostics (Basel, Switzerland) · 2023Article
- Calling and Phasing of Single-Nucleotide and Structural Variants of theInternational journal of molecular sciences · 2023Article
- Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.Journal of applied genetics · 2022Review
- Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.International journal of molecular sciences · 2022Article
- Article
- Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.Journal of clinical medicine · 2021Article
- Genetics, Screening, and Treatment of Familial Hypercholesterolemia: Experience Gained From the Implementation of the Vietnam Familial Hypercholesterolemia Registry.Frontiers in genetics · 2020Article
- Article
- Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.Lipids in health and disease · 2018Article
- Clinical management of heterozygous familial hypercholesterolemia in a Polish outpatient metabolic clinic: a retrospective observational study.Archives of medical science : AMS · 2018Article
- Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management.Frontiers in pharmacology · 2018Review
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundFamilial hypercholesterolemia (FH) is a common autosomal dominant disorder with a frequency of 1 in 200 to 500 in most European populations. Mutations in LDLR, APOB and PCSK9 genes are known to cause FH. In this study, we analyzed the genetic spectrum of the disease in the understudied Polish population. MATERIALS AND
methods161 unrelated subjects with a clinical diagnosis of FH from the south-eastern region of Poland were recruited. High resolution melt and direct sequencing of PCR products were used to screen 18 exons of LDLR, a region of exon 26 in the APOB gene and exon 7 of PCSK9. Multiplex ligation-dependent probe amplification (MLPA) was performed to detect gross deletions and insertions in LDLR. Genotypes of six LDL-C raising SNPs were used for a polygenic gene score calculation.
resultsWe found 39 different pathogenic mutations in the LDLR gene with 10 of them being novel. 13 (8%) individuals carried the p.Arg3527Gln mutation in APOB, and overall the detection rate was 43.4%. Of the patients where no mutation could be found, 53 (84.1%) had a gene score in the top three quartiles of the healthy comparison group suggesting that they have a polygenic cause for their high cholesterol.
conclusionsThese results confirm the genetic heterogeneity of FH in Poland, which should be considered when designing a diagnostic strategy in the country. As in the UK, in the majority of patients where no mutation can be found, there is likely to be a polygenic cause of their high cholesterol level.
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